Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28878769T>A , CM000678.2:g.28878769T>A | GRCh38 |
| NC_000016.9:g.28890090T>A , CM000678.1:g.28890090T>A | GRCh37 |
| NC_000016.8:g.28797591T>A | NCBI36 |
| NG_023327.1:g.5282T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004320.6:c.98T>A MANE Select | NP_004311.1:p.Leu33Gln |
| ENST00000395503.9:c.98T>A MANE Select | ENSP00000378879.5:p.Leu33Gln |
| NM_004320.4:c.98T>A | NP_004311.1:p.Leu33Gln |
| NM_173201.3:c.98T>A | NP_775293.1:p.Leu33Gln |
| NM_173201.4:c.98T>A | NP_775293.1:p.Leu33Gln |
| NM_173201.5:c.98T>A | NP_775293.1:p.Leu33Gln |
| ENST00000357084.7:c.98T>A | ENSP00000349595.3:p.Leu33Gln |
| ENST00000395503.8:c.98T>A | ENSP00000378879.4:p.Leu33Gln |